J Med Genet -- Table of Contents (14 [6])

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December 1977 (Volume 14, Number 6). [Index by author]

		Research Article

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Research Article

Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen.
P S Harper
J Med Genet 1977; 14: 389-398. doi:10.1136/jmg.14.6.389 [PDF] [Request Permissions]

Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission.
P E Fine
J Med Genet 1977; 14: 399-407. doi:10.1136/jmg.14.6.399 [Abstract] [PDF] [Request Permissions]

Recurrence risks in complex inheritance with special regard to pyloric stenosis.
J M Lalouel, N E Morton, C J MacLean, and J Jackson
J Med Genet 1977; 14: 408-414. doi:10.1136/jmg.14.6.408 [Abstract] [PDF] [Request Permissions]

Genetics of Möbius syndrome.
M Baraitser
J Med Genet 1977; 14: 415-417. doi:10.1136/jmg.14.6.415 [Abstract] [PDF] [Request Permissions]

Endocrine abnormalities and myopathy in Bloom's syndrome.
U Ahmad, E R Fisher, T S Danowski, S Nolan, and T Stephan
J Med Genet 1977; 14: 418-421. doi:10.1136/jmg.14.6.418 [Abstract] [PDF] [Request Permissions]

Haemoglobin Porto Alegre in a Cuban family.
G Martínez, F Lima, M Wade, M Estrada, B Colombo, L Heredero, and H Granda
J Med Genet 1977; 14: 422-425. doi:10.1136/jmg.14.6.422 [Abstract] [PDF] [Request Permissions]

Congenital, hypotonic-sclerotic muscular dystrophy.
T Furukawa and Y Toyokura
J Med Genet 1977; 14: 426-429. doi:10.1136/jmg.14.6.426 [Abstract] [PDF] [Request Permissions]

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.
A G Hunter, P J McAlpine, N L Rudd, and F C Fraser
J Med Genet 1977; 14: 430-437. doi:10.1136/jmg.14.6.430 [Abstract] [PDF] [Request Permissions]

Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.
A Schinzel, P Auf der Maur, and H Moser
J Med Genet 1977; 14: 438-444. doi:10.1136/jmg.14.6.438 [Abstract] [PDF] [Request Permissions]

Hunter syndrome presenting as macrocephaly and hydrocephalus.
S Yatziv and C J Epstein
J Med Genet 1977; 14: 445-447. doi:10.1136/jmg.14.6.445 [Abstract] [PDF] [Request Permissions]

Supernumerary small ring chromosome.
S Kaffe, H J Kim, L Y Hsu, C B Brill, and K Hirschhorn
J Med Genet 1977; 14: 447-451. doi:10.1136/jmg.14.6.447 [Abstract] [PDF] [Request Permissions]

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.
A J Hamers and C van Kempen
J Med Genet 1977; 14: 451-455. doi:10.1136/jmg.14.6.451 [Abstract] [PDF] [Request Permissions]

An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.
L Wisniewski, G Purdy, T Hassold, C Wilson, K Bentley, E Hackel, and J V Higgins
J Med Genet 1977; 14: 455-459. doi:10.1136/jmg.14.6.455 [Abstract] [PDF] [Request Permissions]

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).
O Sanchéz, P Mamunes, and J J Yunis
J Med Genet 1977; 14: 459-462. doi:10.1136/jmg.14.6.459 [Abstract] [PDF] [Request Permissions]

Partial trisomy 8 (trisomy 8q2106 leads to 8qter).
D Abuelo, D P Perl, C Henkle, and A Richardson
J Med Genet 1977; 14: 463-466. doi:10.1136/jmg.14.6.463 [Abstract] [PDF] [Request Permissions]

Absence of distal interphalangeal fold causing difficulty in extending fingers.
D Lambert, A Nivelon-Chevallier, and J L Chapuis
J Med Genet 1977; 14: 466-467. doi:10.1136/jmg.14.6.466 [Abstract] [PDF] [Request Permissions]

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	Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. P S Harper J Med Genet 1977; 14: 389-398. doi:10.1136/jmg.14.6.389 [PDF] [Request Permissions]

	Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission. P E Fine J Med Genet 1977; 14: 399-407. doi:10.1136/jmg.14.6.399 [Abstract] [PDF] [Request Permissions]

	Recurrence risks in complex inheritance with special regard to pyloric stenosis. J M Lalouel, N E Morton, C J MacLean, and J Jackson J Med Genet 1977; 14: 408-414. doi:10.1136/jmg.14.6.408 [Abstract] [PDF] [Request Permissions]

	Genetics of Möbius syndrome. M Baraitser J Med Genet 1977; 14: 415-417. doi:10.1136/jmg.14.6.415 [Abstract] [PDF] [Request Permissions]

	Endocrine abnormalities and myopathy in Bloom's syndrome. U Ahmad, E R Fisher, T S Danowski, S Nolan, and T Stephan J Med Genet 1977; 14: 418-421. doi:10.1136/jmg.14.6.418 [Abstract] [PDF] [Request Permissions]

	Haemoglobin Porto Alegre in a Cuban family. G Martínez, F Lima, M Wade, M Estrada, B Colombo, L Heredero, and H Granda J Med Genet 1977; 14: 422-425. doi:10.1136/jmg.14.6.422 [Abstract] [PDF] [Request Permissions]

	Congenital, hypotonic-sclerotic muscular dystrophy. T Furukawa and Y Toyokura J Med Genet 1977; 14: 426-429. doi:10.1136/jmg.14.6.426 [Abstract] [PDF] [Request Permissions]

	A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. A G Hunter, P J McAlpine, N L Rudd, and F C Fraser J Med Genet 1977; 14: 430-437. doi:10.1136/jmg.14.6.430 [Abstract] [PDF] [Request Permissions]

	Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. A Schinzel, P Auf der Maur, and H Moser J Med Genet 1977; 14: 438-444. doi:10.1136/jmg.14.6.438 [Abstract] [PDF] [Request Permissions]

	Hunter syndrome presenting as macrocephaly and hydrocephalus. S Yatziv and C J Epstein J Med Genet 1977; 14: 445-447. doi:10.1136/jmg.14.6.445 [Abstract] [PDF] [Request Permissions]

	Supernumerary small ring chromosome. S Kaffe, H J Kim, L Y Hsu, C B Brill, and K Hirschhorn J Med Genet 1977; 14: 447-451. doi:10.1136/jmg.14.6.447 [Abstract] [PDF] [Request Permissions]

	Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. A J Hamers and C van Kempen J Med Genet 1977; 14: 451-455. doi:10.1136/jmg.14.6.451 [Abstract] [PDF] [Request Permissions]

	An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies. L Wisniewski, G Purdy, T Hassold, C Wilson, K Bentley, E Hackel, and J V Higgins J Med Genet 1977; 14: 455-459. doi:10.1136/jmg.14.6.455 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). O Sanchéz, P Mamunes, and J J Yunis J Med Genet 1977; 14: 459-462. doi:10.1136/jmg.14.6.459 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 8 (trisomy 8q2106 leads to 8qter). D Abuelo, D P Perl, C Henkle, and A Richardson J Med Genet 1977; 14: 463-466. doi:10.1136/jmg.14.6.463 [Abstract] [PDF] [Request Permissions]

	Absence of distal interphalangeal fold causing difficulty in extending fingers. D Lambert, A Nivelon-Chevallier, and J L Chapuis J Med Genet 1977; 14: 466-467. doi:10.1136/jmg.14.6.466 [Abstract] [PDF] [Request Permissions]